Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.
Title | Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | Sevdali, E., Tsitsami E., Tsinti M., Farmaki E., Papadopoulou-Alataki E., Germenis A. E., & Speletas M. |
Journal | J Immunol Res |
Volume | 2017 |
Pagination | 1514294 |
Date Published | 2017 |
ISSN | 2314-7156 |
Keywords | Acetylesterase, Adolescent, Alleles, Arthritis, Juvenile, Autoimmunity, Case-Control Studies, Child, Child, Preschool, Cohort Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Immunologic Deficiency Syndromes, Male, Mutation, Polymorphism, Single Nucleotide |
Abstract | Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs. A cohort of 69 patients with JIA, 117 healthy children, 54 patients, and family members with PADs were enrolled in the study. Three novel variants (p.Q343P, p.Y495X, and c.1320+33T>C) were found only in patients with aJIA but interestingly also in their healthy relatives without autoimmunity, while none of PAD patients or their relatives carried defects. Our results show that rare variants are not causative of autoimmunity as single defects. |
DOI | 10.1155/2017/1514294 |
Alternate Journal | J Immunol Res |
PubMed ID | 28900629 |
PubMed Central ID | PMC5576406 |